Article
Identification and functional analysis of novel human melanocortin-4 receptor variants.
Diabetes - 1 Mar 1999
Gu W, Tu Z, Kleyn P W, Kissebah A, Duprat L, Lee J, Chin W, Maruti S, Deng N, Fisher S L, Franco L S, Burn P, Yagaloff K A, Nathan J, Heymsfield S, Albu J, Pi-Sunyer F X, Allison D B
Abstract excerpt
Inactivation of the melanocortin-4 receptor (MC4-R) by gene-targeting results in mice that develop maturity-onset obesity, hyperinsulinemia, and hyperglycemia. These phenotypes resemble common forms of human obesity, which are late-onset and frequently accompanied by NIDDM. It is not clear whether sequence variation of the MC4-R gene contributes to obesity in humans. Therefore, we examined the human MC4-R gene...
Topics
- Adolescent
- Adult
- Amino Acid Substitution
- Animals
- Body Mass Index
- Cloning, Molecular
- Diabetes Mellitus
- Diabetes Mellitus, Type 2
- Female
- Genetic Predisposition to Disease
